The Many Causes of Severe Congenital Neutropenia Jan 1, 2009
In 1956, Rolf Kostmann, a Swedish pediatrician, described an autosomal recessive disorder that he called infantile genetic agranulocytosis which is now called severe congenital neutropenia ... 1 There are also autosomal dominant and sporadic forms of severe congenital neutropenia that are caused by mutations in the ELA2 gene, which encodes the serine protease neutrophil elastase. (New England Journal of Medicine)
A Syndrome with Congenital Neutropenia and Mutations in G6PC3 Jan 1, 2009
Background The main features of severe congenital neutropenia are the onset of severe bacterial infections early in life, a paucity of mature neutrophils, and an increased risk of leukemia. In many patients, the genetic causes of severe congenital neutropenia are unknown ... Methods We performed genomewide genotyping and linkage analysis on two consanguineous pedigrees with a total of five children affected with severe congenital neutropenia. (New England Journal of Medicine)
Key To Regulation Of Puberty Discovered Dec 13, 2008
These mutations were only found in members with the condition, severe congenital gonadotropin deficiency, and not their siblings. Affected individuals were all homozygous (they have two identical copies of the gene) for these mutations. (Science Daily)
This little angel came to me for the right reason Dec 11, 2008
Thus, every cell in her body is missing a piece of information, which has caused severe congenital defects including neurological defects and blindness, her mother said. Alyssa was in the intensive care unit for three months. (Columbus Telegram, NE)
Heart Defect Shouldn't Limit Kids' Exercise Oct 31, 2008
"Contrary to one's common sense and intuition, children with a moderately severe congenital heart defect -- some of whom even had open-heart surgery -- are capable of exercising with the same intensity and endurance as children with an uneventful medical history," Binkhorst told Reuters Health. Moreover, this study does not substantiate the "commonly reported occurrence of overprotection in children with congenital heart disease," the investigators note. (MEDLINEplus)
Eavey named director at Wilkerson Center Oct 29, 2008
His recent work includes studies in tissue engineering for severe congenital ear malformations. Much of his work has reached national and international attention, with publications in the New England Journal of Medicine and the Journal of Clinical Investigation. (Nashville Business Journal, TN)
Govt may raise legal time limit to abort baby Sep 12, 2008
Nikita, well into her 25th week of pregnancy, was informed by doctors that the foetus in her womb had a congenital heart block, indicating that the child would be born with severe congenital deformities. The Bombay HC had disallowed aborting the foetus after observing that the plea to terminate the pregnancy was equivalent to mercy killing. (Times of India)
Regence Wins Four International Telly Awards for Health and Wellness Videos Jul 4, 2008
com videos are: -- Matters of the Heart: Aimee and Joe Mooney's son Finn was diagnosed with severe congenital heart disease, but after 13 surgeries their 6-year-old's fight has made their family stronger than ever. Watch it here. (PR Newswire)
Cure for Teen's Rare Illness Could Prove Deadly Jun 17, 2008
Corey is one of a handful of Australians diagnosed with Kostmann's Syndrome, a severe congenital disease that means his body cannot fight bacterial infection. Paper cuts, colds and mosquito bites have all put Corey in hospital - he has been admitted about 80 times - because he does not produce the white blood cells needed to battle illness. (Fox News)
Ronald McDonald House gets a new look Jun 1, 2008
Now, just inside the door to Room 6 is a framed photo of baby Marilyn, who was born with severe congenital problems and lived only 45 days in the neonatal intensive care unit before she died. Her death was traumatic for Mrs. Gates, but it eventually motivated her to switch from becoming a dental hygienist to becoming a pediatric nutritionist in the NICU at Medical College of Georgia Children's Medical Center. (The Augusta Chronicle)
Carnival benefit to be held in Mandan May 31, 2008
Three months later, in December 2007, Crew was diagnosed with severe congenital glaucoma in his already troubled left eye. In his eight months of life, Crew has undergone seven surgeries to help alleviate his conditions, including one in Miami to remove the lens from his left eye. (Bismarck Tribune, ND)
Function Of Molecular Switch Pinpointed In Severe Congenital Neutropenia Mar 10, 2008
10, 2008) Researchers have for the first time cleared an important hurdle to clarifying the molecular mechanics behind Severe Congenital Neutropenia (SCN), a deadly disease characterized by a deficiency of neutrophils -- a type of mature white blood cell important to fighting infection and disease. A research team led by Cincinnati Children's Hospital Medical Center reports in the March 14 Immunity the first evidence of how a specific genetic mutation found in humans with SCN blocks neutrophil... (Science Daily)
Babies with Heart Defects Do Best at Hospitals with Most Experience Dec 19, 2007
The study authors focused on two of the most severe congenital heart defects: transposition of the great arteries (TGA), in which major blood vessels leading between the heart and lungs are reversed; and hypoplastic left heart syndrome (HLHS), in which the left side of the heart does not develop properly. If heart surgery isn't done within a few weeks of birth, both conditions are fatal. (MEDLINEplus)
Hunting the Taliban, finding sick children by the score Dec 11, 2007
He had the growth and circulatory problems associated with severe congenital heart disease. Graham listened to his heart. (International Herald Tribune)
Folic Acid Fortification Cuts Babies' Heart Risks Nov 6, 2007
In this study, a team at McGill University in Montreal identified more than 2,200 babies with severe congenital heart disease born in Quebec from 1990 to 2001 ... They found there wasn't a significant decline in the average prevalence of severe congenital heart defects in newborns until the post-fortification period (1 ... "Public health measures to increase folic acid intake were followed by a decrease in number of severe congenital heart disease births, supporting the hypothesis that folic... (MEDLINEplus)
Can Heart Tissue Be Regenerated? Mature Heart Cells, Given The Right Environment, Can Replicate Jul 19, 2007
"Many patients with severe congenital heart disease eventually hit a place where the heart isn't pumping adequately," Kuhn says. He envisions inserting the patch via a catheter, directly through the skin or during heart surgery performed for other reasons. (Science Daily)
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets Jun 21, 2007
Rare hemizygous males suffer from a severe congenital encephalopathy. Methods. (BioMed Central)
Teen with heart defect to play in LPGA event May 29, 2007
Kline was born with a severe congenital heart defect. Today show. (MSNBC -- Sports)
Should the UK adopt Dutch rules on euthanasia in newborn babies? May 4, 2007
In the Netherlands, about 200,000 live births occur annually; of these, 10-20 babies mostly with severe congenital malformations are thought to be actively killed. Yet between 1997 and 2004 only 22 such deaths were reported to the authorities, writes Kate Costeloe, Professor of Paediatrics at the University of London. (EurekAlert!)
FDA CAPSULES Apr 10, 2007
Severe congenital protein C deficiency is a rare genetic defect found in one to two newborns for every million births. Patients with insufficient levels of protein C experience abnormally high numbers of blood clots. (Newsday -- Health)
His little brother's keeper Mar 18, 2007
Jonathan, 4, was born in South Africa with Kostmann's syndrome, a severe congenital disease that means his bone marrow cannot produce enough white cells, called neutrophils, to destroy bacteria in the blood. He constantly suffered life-threatening infections including tuberculosis, pneumonia and meningitis, which meant he was hospitalised at the slightest hint of a fever. (Sydney Morning Herald -- Australia)
Actelion Announces Full Year 2006 Financial Results Feb 22, 2007
This study evaluated the use of Tracleer(r) (bosentan) in pulmonary arterial hypertension (PAH) related to Eisenmenger's syndrome, a severe congenital heart defect. In 2007, the company also plans to discuss with Health Authorities its children's formulation of bosentan, based on phamacodynamic data generated in the FUTURE-1 study. (Primezone Releases)
'One of the great success stories of 20th-century medicine' Jan 10, 2007
He was first diagnosed with heart trouble at age 7 when a cardiac ultrasound revealed a mass of fatty tissue growing on his aortic valve, a condition known as severe congenital aortic stenosis. Shortly thereafter, he underwent open-heart surgery. (Globe and Mail)
